A Suspected Case of MEHMO – Rare X-linked Mitochondrial Disorder

ABSTRACT

Introduction: MEHMO (Mental retardation, epilepticseizures, hypogonadism and hypogenitalism, microcephalyand obesity) is a rare and complex X-linked disorder whichcharacterized by profound intellectual disability, epilepticseizures, hypogonadism and hypogenitalism, microcephalyand obesity. By genetic haplotype and linkage analysis,disease locus has been assigned to Xp21.1 - Xp22.13.Case report The patient was born to non-consanguineousparents near the term of delivery and clinically was verysimilar to the syndromal description of MEHMO. Familyhistory of deaths of 2 maternal uncles below the age of 2 yearssuggests X- linked inheritance.Conclusion: The findings of index case warrant cliniciansto be more vigilant while assessing such cases and calls forthorough clinical examination, family history, detailed labwork up and molecular genetics whenever possible to supportand contribute towards literature in futur